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An integration-free iPSC line (SDQLCHi017-A) derived from a patient with nemaline myopathy-2 disease carrying compound heterozygote mutations in NEB gene.

Stem cell research - 1 Mar 2020

Ma Yanyan, Zhang Haiyan, Li Xiaomei, Yang Xiaomeng, Li Yue, Guan Jingyun, Lv Yuqiang, Gai Zhongtao, Liu Yi

Abstract excerpt

Nemaline myopathy-2 (NEM2) is an autosomal recessive skeletal muscle disorder caused by mutations in the nebulin (NEB) gene. We report the generation and characterization of a human induced pluripotent stem cell (iPSC) line SDQLCHi017-A, derived from a 1-month-old patient with NEM2 carrying compound heterozygote mutations (c.6915+1G>T, c.14910+3G>C) in NEB gene. The peripheral blood mononuclear cells (PBMCs) were...

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Identifiers

PMID: 32062132
DOI: 10.1016/j.scr.2020.101729

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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